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Biotinidase Deficiency Biotinidase deficiency is an inherited metabolic disorder which prevents the body from processing biotin in a normal manner It was not discovered until 1983 Thibodeau Wolf 1999 therefore no long term research on the disease has been done Children with the disease are given large doses of free biotin which alleviates present symptoms of the disease and prevents new symptoms from developing So far no long term side effects of the treatment have been discovered and children with the disorder are expected to have a normal lifespan This is an autosomal recessive disorder which means that the gene that causes it is on an antosome rather than a sex chromosome therefore one must inherit the defective gene from both parents to have the disorder Thiodeau Wolf 1999 in other words both parents must be carriers or have the disorder themselves in order to pass it on to their child The gene that causes this biotinidase deficiency is found on the short arm of chromosome 3 Fourty different mutations have been that can cause biotinidase deficiency have been documented Thibodeau Wolf 1999 In one study four mutations were shown to occur in 59 of children diagnosed with biotinidase deficiency two of these mutations occurred in both children diagnosed though screening at birth and in children diagnosed by symptoms which developed over time however they occurred in the symptomatic population much more often because the other two mutations only occurred in children diagnosed by screening it is thought that they would not develop symptoms even with treatment Wolf B 2000 People with biotinidase deficiency have insufficient biotinidase activity Carriers peopel with one defective gene have 50 of regular biotinidase activity and nomally do not have any of the symptoms of biotinidase deficiency people with partial biotinidase deficiency have 10-30 of normal activity while people with profound biotinidase activity have less than 10 of biotinidase activity Thibodeau Wolf 1999 Biotin is a vitamin found
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